Details of Disease

General Information of Disease (ID: DIS0M9AF)

• Disease Name: Renal agenesis
• Synonyms: renal hypodysplasia/aplasia; hereditary renal aplasia; renal agenesis/hypoplasia; renal adysplasia; absent/small kidney; renal aplasia; hereditary urogenital adysplasia; absent/underdeveloped kidney; renal agenesis (disease); renal agenesis
• Definition: Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DISNCQLA: Inherited kidney disorder
  DIS0M9AF: Renal agenesis
• Disease Identifiers:
  MONDO ID: MONDO_0018470
  UMLS CUI: C0542519
  MedGen ID: 154237
  HPO ID: HP:0000104
  Orphanet ID: 411709
  SNOMED CT ID: 204942005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FRAS1	OTLPESF3	Strong	Biomarker	[1]
GREB1L	OTZTY5KQ	Strong	Genetic Variation	[2]
ANOS1	OTZJT4KN	Definitive	Biomarker	[3]
FREM1	OTMHRV87	Definitive	Biomarker	[4]
FREM2	OTEK6BZR	Definitive	Biomarker	[4]
GEN1	OT1XFQXF	Definitive	Genetic Variation	[5]
HOXD11	OT9XGA4G	Definitive	Genetic Variation	[6]
IFT27	OT3NY6O6	Definitive	Genetic Variation	[7]
NOTUM	OT03MYQ2	Definitive	Biomarker	[8]
SERPINA4	OTBK0GG7	Definitive	Genetic Variation	[9]
SOX8	OTEJXYZM	Definitive	Biomarker	[10]

References

• [1] Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.J Am Soc Nephrol. 2012 Nov;23(11):1790-6. doi: 10.1681/ASN.2012020146. Epub 2012 Oct 11.
• [2] Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Mllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. A case report.Hum Reprod. 2019 Sep 29;34(9):1838-1846. doi: 10.1093/humrep/dez126.
• [3] Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.Fertil Steril. 2007 Nov;88(5):1311-7. doi: 10.1016/j.fertnstert.2006.12.044. Epub 2007 Jul 2.
• [4] The role of Fras1/Frem proteins in the structure and function of basement membrane.Int J Biochem Cell Biol. 2011 Apr;43(4):487-95. doi: 10.1016/j.biocel.2010.12.016. Epub 2010 Dec 21.
• [5] Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.Int J Biol Sci. 2018 Jan 1;14(1):10-20. doi: 10.7150/ijbs.22768. eCollection 2018.
• [6] Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations.Pediatr Nephrol. 2009 Aug;24(8):1569-72. doi: 10.1007/s00467-009-1140-y. Epub 2009 Mar 3.
• [7] Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.Am J Med Genet A. 2018 Jul;176(7):1610-1613. doi: 10.1002/ajmg.a.38685. Epub 2018 Apr 27.
• [8] Dentin Dysplasia in Notum Knockout Mice.Vet Pathol. 2016 Jul;53(4):853-62. doi: 10.1177/0300985815626778. Epub 2016 Feb 29.
• [9] Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.Hum Mol Genet. 1993 Apr;2(4):373-7. doi: 10.1093/hmg/2.4.373.
• [10] SOX9 controls epithelial branching by activating RET effector genes during kidney development.Hum Mol Genet. 2011 Mar 15;20(6):1143-53. doi: 10.1093/hmg/ddq558. Epub 2011 Jan 6.